NEUROFIBROMATOSIS

Neurofibromatosis, also known as von Recklinghausen's disease, and is a hereditary (genetic) disorder of overgrowth and abnormal growth of embryonic neural components within the body. Neurofibromatosis, također poznat kao von Recklinghausen bolest, te je nasljedni (genetski) poremećaj u rastinje i nenormalan rast embrionalne živčanog komponente unutar tijela.

Appearance of Skin and Signs of Neurofibromatosis Izgled kože i znakovi Neurofibromatosis

The patient presents with light-dark brown patches called cafe-au-lait spots. Pacijenta predstavlja sa svjetlo-tamno smeđa zakrpe naziva cafe-au-lait pjege. These spots are usually greater than 1.5 cm in adults and there should be more than 6 of them. Te točke su obično veća od 1.5 cm u odraslih i tamo bi trebao biti više od 6 njih. In children, less than 5, these patches are smaller, greater than 0.5 cm and more than 5 are usually present. U djece, manje od 5, te zakrpe su manji, veći od 0,5 cm i više od 5 su obično prisutni.

Epidemiology and Causes of Neurofibromatosis Epidemiologija i uzroka Neurofibromatosis

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural/nerve cell tissues. U neurofibromatoses su genetski poremećaji na živčani sustav što prije svega utječu na razvoj i rast živčanog / živac stanica tkiva. These disorders cause tumors to grow on nerves. Ove bolesti uzrokuju rasti tumori na živce. In addition, neurofibromatoses produce numerous skin changes, as well as bone deformities. Osim toga, neurofibromatoses proizvoditi koža mnogobrojne promjene, kao i kosti deformities. These signs are essential, as they can help aid in the diagnosis of a patient with neurofibromatoses early on. Ovi znakovi su bitni, jer oni mogu pomoći pomoć u dijagnozi od pacijent sa neurofibromatoses ranih dana. These diseases are found in about 0.3% of the population. Ove bolesti se nalaze u oko 0,3% stanovništva. These diseases are a genetic disease - mainly inherited from your parents. Ove bolesti su genetske bolesti - uglavnom naslijeđena od roditelja. However, even though many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through a mutational event, which changes a persons genetic material, and affects their genes. Međutim, iako su mnoge pogođene osobe baštiniti poremećaja, između 30 i 50 posto novih slučajeva nastaju spontano kroz mutational događaja, promjene koje jedna osoba genetski materijal, te utječe na njihove gena. Genes subsequently turn into proteins that are the active components in the body and may cause disease if formed abnormally. Gena kasnije prerasti u bjelančevine koje su aktivne komponente u tijelu i svibanj uzrok bolesti ako formirana abnormally. Once this change has taken place, the mutant gene can be passed on to the patients children, as the mutation has affected the patients germ cells. Nakon ove promjene je održan, na Mutant gena mogu biti usvojeni na pacijente djece, kao mutacija je utjecao na pacijente klica ćelija. This occurs because this disease usually presents when a person is born, and therefore, the mutation has propagated throught the cells of their body, including their germ cells, which form either spermatocytes in a male or ova (eggs) in a female. To se događa jer je ova bolest obično predstavlja kada je osoba rođena, i stoga je mutacija je propagated mislio stanicama njihovih tijela, uključujući i njihove klica ćelija, bilo koji oblik spermatocytes u muško ili ova (jaja) u žensko.

Because neurofibromatoses are numerous, scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Zbog neurofibromatoses su brojne, znanstvenici su klasificirane su kao neurofibromatosis bolesti tipa 1 (NF1) i neurofibromatosis tip 2 (NF2). NF1 is the more common type of the neurofibromatoses. NF1 je više tip zajednicki od neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. U dijagnosticiranje NF1, s liječnikom izgleda za promjene u izgledu kože, tumori ili abnormalnosti kostiju, i / ili roditelja, polubrat, ili dijete s NF1. Symptoms of NF1, particularly those on the skin, are often seen at birth or during infancy. Simptomi NF1, osobito onih na koži, često vidio pri porodu ili u rano djetinjstvo. The latest that skin changes are seen, is almost always by the time a child is about 10 years old. Posljednja promjena kože da se vidi, gotovo je uvijek uz vrijeme dijete je oko 10 godina. NF2 is less common. NF2 je manje čest. NF2 is characterized by tumors of the eighth cranial nerve on both sides of the body. NF2 karakteriziraju tumori u osmi kranijalni živac na obje strane tijela. Cranial nerve eight is essential for hearing, it is the acoustic nerve that goes to the ear and allows for hearing. Kranijalni živac osam je bitno za sluh, to je akustički živac koji ide na uho i dozvoljava saslušanje. In addition, it is the nerve that allows for the vestibular functions of the body, such as balance and position senses. Osim toga, to je živac koji omogućuje za vestibularni funkcije tijela, kao što su pozicija bilance i osjetila.

It therefore has severe consequences, if this nerve is affected. Stoga je teškim posljedicama, ako se ovo je zahvaćena živca. These tumors can also cause pressure that can damage neighboring nerves, including other cranial nerves, such as the ones that can cause tongue sensation and motor/muscle contractions to the face. Ovi tumori mogu također uzrokovati pritisak koji mogu oštetiti susjedne živce, uključujući i druge kranijalni živci, kao što su one koje mogu izazvati osjećaj jezik i motor / mišićnih kontrakcija na lice. To determine whether an individual has NF2, a physician will inspect the paitnet and do a head and neck exam, especially looking for bilateral eighth nerve tumors, which can be done through a CT scan or through a clinical examination with tunning forks, numerous manouverse to test balance and gait and hearing tests. Da biste utvrdili da li pojedinac ima NF2, a liječnik će pregledati paitnet i ne glave i vrata ispit, a posebice u potrazi za bilateralne osmi nervni tumori, koji se može obaviti putem CT skeniranja ili putem kliničkih ispitivanja s tunning viljuške, brojnim manouverse da test ravnoteže i sluha hod i testovi. Similar signs and symptoms in a parent, sibling, or child are of great concern and should always be presented to a physician. Slične znakove i simptome u roditelja, polubrat, dijete ili su veliku zabrinutost i uvijek bi trebala biti predstavljena s liječnikom. Affected individuals may notice hearing loss as early as the teen years. Izmijenjeni pojedinaca svibanj obavijest sluha još u teen godinama. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Ostali rani simptomi uključuju svibanj zujanje u ušima (melodije šum u uhu) i siromašnih ravnoteže. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur. Glavobolje, bolove lica ili lica utrnulost, uzrokovane pritisak od tumora, svibanj pojaviti se. Neurofibromatosis is also associated with many other diseases, such as hypertension from renal artety stenosis, scoliosis of the back, bone cysts and developmental delay. Neurofibromatosis je također vezan uz mnoge druge bolesti, kao što su hipertenzija iz bubrega artety stenoza, scoliosis u leđa, kosti cysts i razvojnih kašnjenja. MOST IMPORTANTLY, these disorders are associated with a high malignant potential, and can lead to astrocytoma, acoustic neuroma, neurofibrosarcoma. Najvažnije, ove bolesti su povezane s visokim malignim potencijalom, a može dovesti do astrocytoma, akustične neurom, neurofibrosarcoma. It is therefore essential that these paitens be followed very closely by a physician or numerous specialists. Stoga je neophodno da ove paitens slijedi vrlo blisko sa svojim liječnikom ili brojni stručnjaci.

Neurofibromatosis Treatments Neurofibromatosis tretmani

Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Tretmani za oba NF1 i NF2 su trenutno usmjeren na kontroliranje simptoma. Complete cure rates are not possible, as these are inherited genetic diseases, and affect every cell of an individual. Kompletan lijek stope nisu moguće, kao što su to genetski naslijeđene bolesti, te utjecati na svaku od ćelija pojedinca. Gene therapy may hold promise in the future, however, current trials have not produced the results that were much expected. Gensku terapiju svibanj držati obećanja u budućnosti, međutim, trenutna suđenja nisu proizvodili su rezultati koji su bili mnogo očekuje. To alleviate symptoms, surgery can help some NF1 bone malformations and remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers. Za ublažavanje simptoma, kirurgija može pomoći u nekim NF1 malformacije kostiju i ukloniti bolno ili disfiguring tumori, međutim, postoji mogućnost da se tumori svibanj rasti i povratak u većim brojevima.